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Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction
1Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria, Europe. fifigs1@yahoo.de
Pediatric Cardiology
|February 3, 2009
Summary
Left ventricular hypertrabeculation (LVHT) is linked to genetic mutations affecting cardiac and muscle tissues, as well as chromosomal disorders. These findings highlight the need for thorough cardiac, neurologic, and cytogenetic evaluations in affected individuals.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Left ventricular hypertrabeculation (LVHT), also known as noncompaction or spongy myocardium, is a cardiac abnormality with an unclear cause.
- LVHT is often associated with genetic disorders, particularly neuromuscular diseases.
Purpose of the Study:
- To review current knowledge on the genetic and pathogenetic background of LVHT.
- To explore the associations between LVHT and genetic cardiac and noncardiac disorders.
Main Methods:
- A comprehensive literature review was conducted.
- Studies focused on human subjects with LVHT and genetic disorders were analyzed.
Main Results:
- LVHT is frequently associated with mitochondrial disorders, Barth syndrome, hypertrophic cardiomyopathy, zaspopathy, myotonic dystrophy 1, and dystrobrevinopathy.
- Less common associations include mutations in DMD, SCNA5, MYBPC3, and other genes, as well as chromosomal disorders and familial cases.
- The genetic heterogeneity suggests LVHT may arise from embryonic noncompaction or be a compensatory response in impaired myocardium.
Conclusions:
- LVHT is most commonly linked to mutations in genes responsible for muscle or cardiac diseases, or to chromosomal disorders.
- Comprehensive cardiac, neurologic, and cytogenetic investigations are essential for patients with LVHT.
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